Tissue | Expression Dynamics | Abbreviation |
Esophagus | ![The image shows the transcriptomic changes along malignancy continuum.log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage.](images/deg_images/Esophagus/PNPLA4_pca_on_diff_genes.png) | ESCC: Esophageal squamous cell carcinoma |
HGIN: High-grade intraepithelial neoplasias |
LGIN: Low-grade intraepithelial neoplasias |
Liver | ![The image shows the transcriptomic changes along malignancy continuum.log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage.](images/deg_images/Liver/PNPLA4_pca_on_diff_genes.png) | HCC: Hepatocellular carcinoma |
NAFLD: Non-alcoholic fatty liver disease |
Oral Cavity | ![The image shows the transcriptomic changes along malignancy continuum.log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage.](images/deg_images/OralCavity/PNPLA4_pca_on_diff_genes.png) | EOLP: Erosive Oral lichen planus |
LP: leukoplakia |
NEOLP: Non-erosive oral lichen planus |
OSCC: Oral squamous cell carcinoma |
Skin | ![The image shows the transcriptomic changes along malignancy continuum.log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage.](images/deg_images/Skin/PNPLA4_pca_on_diff_genes.png) | AK: Actinic keratosis |
cSCC: Cutaneous squamous cell carcinoma |
SCCIS:squamous cell carcinoma in situ |
GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00060668 | Esophagus | ESCC | alcohol metabolic process | 202/8552 | 353/18723 | 7.32e-06 | 7.26e-05 | 202 |
GO:00464864 | Esophagus | ESCC | glycerolipid metabolic process | 211/8552 | 392/18723 | 6.51e-04 | 3.46e-03 | 211 |
GO:00442427 | Esophagus | ESCC | cellular lipid catabolic process | 121/8552 | 214/18723 | 8.63e-04 | 4.43e-03 | 121 |
GO:00160427 | Esophagus | ESCC | lipid catabolic process | 168/8552 | 320/18723 | 7.97e-03 | 2.84e-02 | 168 |
GO:000606621 | Liver | HCC | alcohol metabolic process | 208/7958 | 353/18723 | 2.80e-10 | 9.50e-09 | 208 |
GO:004424222 | Liver | HCC | cellular lipid catabolic process | 134/7958 | 214/18723 | 2.07e-09 | 5.79e-08 | 134 |
GO:00550882 | Liver | HCC | lipid homeostasis | 103/7958 | 167/18723 | 4.27e-07 | 7.18e-06 | 103 |
GO:004648611 | Liver | HCC | glycerolipid metabolic process | 215/7958 | 392/18723 | 4.54e-07 | 7.49e-06 | 215 |
GO:001604221 | Liver | HCC | lipid catabolic process | 175/7958 | 320/18723 | 6.50e-06 | 7.88e-05 | 175 |
GO:00066412 | Liver | HCC | triglyceride metabolic process | 59/7958 | 100/18723 | 6.35e-04 | 3.93e-03 | 59 |
GO:000663911 | Liver | HCC | acylglycerol metabolic process | 72/7958 | 128/18723 | 1.16e-03 | 6.54e-03 | 72 |
GO:000663811 | Liver | HCC | neutral lipid metabolic process | 72/7958 | 129/18723 | 1.54e-03 | 8.14e-03 | 72 |
GO:000672011 | Liver | HCC | isoprenoid metabolic process | 65/7958 | 116/18723 | 2.23e-03 | 1.11e-02 | 65 |
GO:003430812 | Liver | HCC | primary alcohol metabolic process | 55/7958 | 102/18723 | 1.30e-02 | 4.67e-02 | 55 |
GO:00060667 | Oral cavity | OSCC | alcohol metabolic process | 179/7305 | 353/18723 | 4.54e-06 | 5.21e-05 | 179 |
GO:00442426 | Oral cavity | OSCC | cellular lipid catabolic process | 104/7305 | 214/18723 | 2.61e-03 | 1.15e-02 | 104 |
GO:00067203 | Oral cavity | OSCC | isoprenoid metabolic process | 59/7305 | 116/18723 | 6.18e-03 | 2.33e-02 | 59 |
GO:000606613 | Oral cavity | LP | alcohol metabolic process | 111/4623 | 353/18723 | 2.24e-03 | 1.62e-02 | 111 |
GO:004424213 | Oral cavity | LP | cellular lipid catabolic process | 70/4623 | 214/18723 | 4.82e-03 | 3.05e-02 | 70 |
Hugo Symbol | Variant Class | Variant Classification | dbSNP RS | HGVSc | HGVSp | HGVSp Short | SWISSPROT | BIOTYPE | SIFT | PolyPhen | Tumor Sample Barcode | Tissue | Histology | Sex | Age | Stage | Therapy Types | Drugs | Outcome |
PNPLA4 | SNV | Missense_Mutation | | c.680N>A | p.Ser227Asn | p.S227N | P41247 | protein_coding | tolerated(0.43) | benign(0) | TCGA-AR-A0TW-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | doxorubicin | PD |
PNPLA4 | SNV | Missense_Mutation | | c.679N>T | p.Ser227Cys | p.S227C | P41247 | protein_coding | deleterious(0.03) | benign(0.379) | TCGA-AR-A0TW-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | doxorubicin | PD |
PNPLA4 | SNV | Missense_Mutation | rs767773321 | c.188N>G | p.Asn63Ser | p.N63S | P41247 | protein_coding | tolerated(0.73) | benign(0) | TCGA-GI-A2C9-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | | SD |
PNPLA4 | insertion | Frame_Shift_Ins | novel | c.182_183insTTATCAAACTGTGAAACCTATGCCTGGAATACTC | p.Glu61AspfsTer14 | p.E61Dfs*14 | P41247 | protein_coding | | | TCGA-A8-A082-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | 5-fluorouracil | CR |
PNPLA4 | insertion | Frame_Shift_Ins | novel | c.300_301insGCCGCAGCCCAGTACC | p.Pro101AlafsTer42 | p.P101Afs*42 | P41247 | protein_coding | | | TCGA-AN-A0FX-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
PNPLA4 | insertion | Frame_Shift_Ins | novel | c.298_299insA | p.Pro100HisfsTer38 | p.P100Hfs*38 | P41247 | protein_coding | | | TCGA-AN-A0FX-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
PNPLA4 | SNV | Missense_Mutation | | c.491N>T | p.Gly164Val | p.G164V | P41247 | protein_coding | deleterious(0) | probably_damaging(0.995) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
PNPLA4 | SNV | Missense_Mutation | novel | c.437N>T | p.Pro146Leu | p.P146L | P41247 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
PNPLA4 | SNV | Missense_Mutation | rs775251646 | c.329N>A | p.Arg110Gln | p.R110Q | P41247 | protein_coding | deleterious(0) | possibly_damaging(0.876) | TCGA-EA-A3HS-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
PNPLA4 | SNV | Missense_Mutation | | c.203N>T | p.Lys68Met | p.K68M | P41247 | protein_coding | deleterious(0.03) | possibly_damaging(0.799) | TCGA-AA-3672-01 | Colorectum | colon adenocarcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |